Early diagnosis of all types of cancer is extremely important for prevention of the disease onset and to choose the right treatment. Not all cancers are inherited, but they are all the result of genetic mutations in the genome. In some people, carrying certain genetic variants can significantly increase the risk of developing cancer compared to other individuals in the population.
If you have personal or family history of cancer, genetic testing can help you choose the right treatment and build a plan to prevent you and/or your relatives from developing the disease.
Genetic testing for cancer is recommended in the following cases:
• development of breast cancer, colorectal cancer, etc. before the age of 50 years.
• the presence of more than one type of cancer
• presence of certain types of cancer such as ovarian cancer, pancreatic cancer, metastatic prostate cancer, triple-negative breast cancer, breast cancer in men and others.
• more than 10 gastrointestinal polyps, etc.
LGD offers genetic tests to diagnose the following types of cancers:
- Hereditary Breast and Ovarian Cancer (HBOC)
- Hereditary Nonpolyposis Colorectal Cancer HNPCC (Lynch syndrome)
- Hereditary Gastrointestinal Tumors
- Familial adenomatous polyposis (FAP)
- Hirschsprung's disease
- Multiple Endocrine Neoplasia (MEN)
- Li-Fraumeni syndrome
- Familial prostate cancer
- Familial pancreatic cancer
- Фамилен рак на кожата
- Наследствени онкологични заболявания
- Hereditary Paraganglioma / Pheochromocytoma / PGL / PCC syndrome
- Hereditary syndromes associated with tumors of the CNS, PNS
- RASopathies, Genetic syndromes resulting of mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway
- Hereditary Neuroblastoma
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Gorlin Goltz syndrome
- Tuberous sclerosis
Hereditary neurological diseases are a broad group of diseases, but primarily include disorders of muscle control and movement (including convulsions, poor coordination and muscle weakness), delayed neuropsychological development and/or varying degrees of intellectual disability, nervous system degeneration, and cognitive and behavioral problems.
For instance, epilepsy is a disease associated with a disorder in the generation and propagation of the nerve impulses in the brain. This might be due to mutations in various genes encoding potential- and/or ligand-dependent ion channels in the brain, enzymes and proteins associated with the metabolism of various substances in the nerve cell, etc. Some more severe epileptic encephalopathies may lead to a gradual decline in neuropsychological development after the onset of seizures.
Some epilepsies may result from mutations in enzymes involved in a specific metabolic pathway (e.g. pyridoxal phosphate-dependent epilepsy, folate deficiency, creatine metabolism disorders, etc.). Epilepsy can be a hereditary or sporadic condition.
LGD offers genetic tests associated with the following epileptic conditions:
- Epilepsy with febrile seizures, GEFS + and Dravet syndrome
- Epilepsy with benign neonatal and neonatal-infantile seizures and early onset epileptic encephalopathy
- Childhood absence epilepsy and GLUT1 deficiency
- Epileptic encephalopathies
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Epilepsy and epileptic syndromes - extended panel
- Мigraine
- Neuromuscular diseases
- Congenital hypotension
- Hereditary spastic paraplegia
- Hereditary spastic paraplegia, a recessive form associated with cerebellar ataxia
- Hereditary Motor-Sensory Neuropathies
- Hereditary Ataxias
- Cerebellar hypoplasia
- Syndromic intellectual deficit and neurodevelopmental disorders
- Autism
- Developmental delay, intellectual disability, and/or congenital anomalies
- Known microdeletion/microduplication syndromes
Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative diseases characterized by muscle weakness and spasticity that gradually worsen over time. Ataxic conditions most often affect balance, coordination and speech. Many types of ataxia are inherited diseases. Symptoms usually include tremor, gait problems, and muscle weakness that slowly worsen over time.
Disorders of neurocognitive and muscular function in adulthood include symptoms such as muscle weakness, rigidity, impaired movement, coordination, tremors, impaired hearing and vision, speech, and mental disorders. Such diseases can lead to difficulties in making an accurate diagnosis, as well as uncertainty about whether they are hereditary or not, and whether they carry a risk of developing the disease in direct relativesGenetic analysis can help diagnose such patients and assess the risk of developing the disease in other family members.
Any degree of significant decline in cognitive function (isolated or part of a syndrome) in early childhood could have a genetic component. Such conditions are, for example, general and neuropsychological developmental delay, intellectual disability, autism spectrum disorders. According to the literature, a huge number of genes play a role in the development of various cognitive disorders, which makes accurate diagnosis an extremely difficult task. Genetic testing could help overcome this problem.
LGD offers a genetic diagnosis of the following genetically determined ataxic conditions:
- Alzheimer's disease
- Parkinson's disease
- Dementia
- Frontotemporal degeneration
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis/ Frontotemporal degeneration
- Motor disorders
- Leukodystrophy with childhood-onset
- Leukodystrophy with brain calcifications
- Leukodystrophy with late-onset
Ophtalmological diseases can result from inherited genetic changes leading to neonatal blindness (eg, Leber's congenital amaurosis), childhood (early-onset retinitis pigmentosa), and adults (age-dependent macular degeneration). Mutations in genes associated with normal vision can also cause blind spots, blurred and impaired vision, impaired color perception, and difficulty in light adaptation of the eye. To date, more than 400 genetic eye diseases are known, which are characterized by specific symptoms. Accurate diagnosis is extremely important in such patients in order to receive timely treatment and prevention, as well as to establish the disease heredity in the family.
LGD offers genetic diagnosis of the following ocular diseases:
- Macular degeneration
- Glaucoma
- Cone-rod retinal degeneration
- Leber hereditary optic neuropathy
- Retinal pigment degeneration
- Usher syndrome type 2
- Bardet-Biedl syndrome
- Congenital stationary night blindness
- Retinoschisis
- Retinoblastoma
- Cataract
Hearing loss (deafness) is the most common birth defect and the most common sensory disease in developing countries. Over 50% of cases of hearing loss are due to genetic factors. Along with deafness, disorders of the vestibular apparatus are also observed. There are over 100 genes associated with congenital hearing loss, but the most common cause are mutations in a single gene that cause only deafness. There is also a syndromic deafness, which manifests along with affected vision and skin.
LGD offers genetic diagnosis of:
- Hereditary and sporadic nonsyndromic neurosensory hearing loss
- Sensorineural hearing loss and Wolfram syndrome type 1
Kidney diseases are a large group of pathological conditions and include variety of symptoms - renal failure, hematuria, proteinuria, back pain, hypertension and others. One of the genetic syndromic diseases characterized by severe renal failure in early childhood are congenital anomalies of the urinary system, which include renal polycystosis, renal agenesis and dysplasia, etc. To date, more than 200 genes have been associated with congenital abnormalities of the urinary system. Another example of a wide range of kidney diseases is steroid-resistant nephrotic syndrome, which often goes undiagnosed in early childhood. If congenital kidney disease is suspected, the genetic test can help make an early diagnosis, which will give the right direction for subsequent treatment, as well as appropriate prevention and lifestyle.
LGD offers genetic diagnosis of the following kidney dieseases:
- Cortico-resistant nephrotic syndrome
- Congenital anomalies of the urinary system
- UMOD-associated nephropathy
- Ciliopathies
- Hereditary kidney diseases
The endocrine system is a network of endocrine glands that produce and secrete hormones - substances that regulate a number of important body processes (energy metabolism of cells, heart activity, growth and development of the musculoskeletal system, reproductive abilities, etc.). The endocrine system plays a vital role in the development of diseases such as diabetes, thyroid disease, growth disorders, sexual dysfunction and others. Most of them are the result of the production of too much or too little of the corresponding hormone - a condition called hormonal imbalance. Hormonal imbalance could be the result of impaired glandular function to stimulate hormone production by another gland - for example, dysfunction of the hypothalamus interrupts the production of growth hormone in the pituitary gland. Hormonal imbalance could be the result of mutations in various genes associated with the production and secretion of a hormone (s).
Some examples of genetic endocrine and liver diseases are:
Cushing's syndrome - due to hyperactivity of the pituitary gland (high levels of adrenocorticotropic hormone), which leads to overproduction of hormones by the adrenal glands (high levels of cortisol). Symptoms include musculoskeletal disorders (muscle weakness, back and lower back pain, easy bone fragility), skin problems, growth problems in children, decreased libido in men, chronic fatigue, headaches, etc.
Multiple endocrine neoplasia (MEN) - a rare genetic disease characterized by the appearance of multiple tumors of the parathyroid glands, adrenal glands, thyroid gland, leading to overproduction of hormones.
Maturity Onset Diabetes of the Young (MODY) - a hereditary autosomal dominant disease associated with impaired insulin production. It differs from the other two types of type I and II diabetes in the pathomechanism of the disease and number of genes affected. There are about 11 subtypes of MODY, each of which is a monogenic disease, ie. the reason for its manifestation is a mutation in a single gene.
Disorders of glycogen metabolism (glycogenosis) - metabolic liver diseases affecting genes encoding various enzymes responsible for the synthesis and breakdown of glycogen, as well as its storage in liver cells.
LGD offers genetic diagnosis of the following endocrinological diseases:
- Endocrine diseases
- Congenital hypopituitarism
- Congenital hypothyroidism
- Isolated growth hormone deficiency
- Maturity-onset diabetes of the young (MODY)
In some cases, a pathogenic genetic variant is the cause of developing cardiovascular disease. Hereditary heart disease can affect several members of the same family. Genetic testing is recommended when you or a family member has been diagnosed or suspected of having congenital heart disease, cardiomyopathy, aortic disease, genetically determined hypercholesterolemia and high blood pressure, pulmonary hypertension, and more.
LGD offers the following tests for the diagnosis of congenital cardiovascular diseases:
- Cardiomyopathies and arrhythmias
- Familial hypercholesterolemia
- Familial hypertriglyceridemia
- Familial lipodystrophy
- Familial disorders associated with an increased risk of cerebrovascular events (stroke)
- Ehlers–Danlos syndrome and related disorders
- Familial hemorrhagic telangiectasia and vascular malformations
- Familial heart diseases
Inborn errors of metabolism are a heterogeneous group of diseases that may be inherited or result from a spontaneous mutation in a gene responsible for the synthesis, degradation or storage of a metabolite (carbohydrates, proteins, fatty acids). Although they belong to the group of the rare diseases, their incidence is 1 in 2,500 live births, making them relatively common. Most of them are transmitted by an autosomal recessive mechanism, but autosomal dominant or X-linked pattern of inheritance are also observed. Epigenetic, microbiome, and environmental factors also play an important role in the development of inborn errors of metabolism. LGD offers tests involving genes, mutations in which cause a variety of diseases such as aminoacidopathies, organic aciduria, urea cycle disorders, porphyria, disorders in the metabolism of certain metals and others. Metabolic diseases affect specific processes occurring in different organelles in the cell, such as glycosylation of various substrates, cholesterol biosynthesis, peroxisome, lysosomal metabolism and others.
Mitochondrial diseases belong to the metabolic disorders and are the second most common after cancer, this group of diseases affects 1/8000 live births. In these diseases the genetic material (DNA) of the mitochondria (the energy centers of the cell) is affected. They can be passed down through the generations and can manifest either in early childhood or later as a result of the accumulation of mitochondria with multiple DNA mutations. The symptoms are diverse, mostly organs and systems with high energy requirements are affected - brain (epileptic seizures, intellectual disability), sensory systems (optic nerve damage, hearing loss), heart (heart attack).
To date, there is no cure for mitochondrial diseases, but there are prophylactic approaches, including a special diet, depending on the specific disease, that improve the symptoms in such patients. Genetic testing is recommended in the presence of the following symptoms: developmental delay of the child, abnormalities of variety of organs and systems, cardiomyopathy and unexplained heart block, arrhythmia, high levels of serum lactate and cerebrospinal fluid, abnormal neuroimaging results, ophthalmoplegia or ptosis , hearing loss, etc.
LGD offers genetic diagnosis of a large group of mitochondrial and metabolic disorders through two molecular genetic approaches:
- Mitochondrial diseases
Genetic diseases of the connective tissue cause disorders in the growth and proper construction of bones and joints. There are a number of genes involved in inherited connective tissue diseases and mutations in the same gene may have different clinical manifestations in different people. One of the well-characterized connective tissue diseases is Marfan's syndrome. It is inherited by an autosomal dominant mechanism, with 75% of the associated variants currently being inherited from an affected parent, while 25% are de novo.
Other connective tissue diseases are homocystinuria, Ehlers-Danlos syndrome, osteogenesis imperfecta and others.
LGD offers the following genetic tests for connective tissue disorders:
- Connective tissue diseases
- Marfan syndrome and Marfan-like diseases
- Skeletal dysplasias
- Multiple congenital malformation disorders
- Arthrogryposis
- Monogenic inflammatory bowel diseases (IBD) with early onset (before 6 years of age)
- Familial pancreatitis
- Hirschsprung disease
- Metabolic diseases
Most hematological diseases have a genetic component, which determines the importance of genetic testing in such diseases. So far, genetic variants associated with hematological diseases in over 200 different genes have been identified. These genes are linked to coagulation disorders such as haemophilia, thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, defects in various coagulation factors and other platelet-related diseases.
Other congenital hematological defects affect erythrocytes (spherocytosis, erythrocytosis, enzyme defects) and cause anemia (sideroblastic, hypochromic, macro- and microcytic, etc.), megaloblastic anemia and disorders in cobalamin synthesis, hemochromatosis and different hemoglobinopathies. Other severe hematological diseases associated with defects in bone marrow formation are Fanconi's anemia, aplastic anemia, congenital dyskeratosis, Diamond-Blackfan anemia, Shwachman-Diamond syndrome. The laboratory offers gene panels containing a combination of genes associated with hematological diseases, selected at the customer’s request.
- Hematological diseases
- Syndromic and non-syndromic diseases with dermatological symptoms
- Reproductive panel - women
- Reproductive panel - men
- Carrier screening for heterozygous carriers of recessive diseases in couples
- Carrier Analysis of Variants Associated with Reproductive Disadvantages
DNA biomarkers are extremely important, as they achieve the choice of the right drug therapy, tailored to the individual patient's response, as well as optimal dosing of the drug applied on the individual (pharmacogenetics), correct diagnosis and prognosis for the outcome of the respective disease. In the context of pharmacogenomics, DNA biomarkers are used to monitor drug pharmacodynamics, as well as to monitor treatment.
There are three broad groups of biomarkers - diagnostic, predictive and prognostic biomarkers. Diagnostic biomarkers help to make appropriated diagnosis of the disease, as well as with establishing its severity. Predictive biomarkers predict the response to a therapy, its effectiveness and safety. They can be used to measure the effectiveness of the drug in the course of therapy (optimization of therapy through monitoring). Prognostic biomarkers predict the most likely outcome of a given condition under standardized treatment conditions. They differ from predictive ones in that they are not associated with the patient's response to a drug.
LGD offers analysis of the following DNA biomarkers:
- BRCA-related expanded panel for assessment of familial risk and therapy selection
- Therapy selection in breast cancer
- Therapy selection in prostate cancer
- Therapy selection for solid tumors associated with homologous recombination deficiency (breast, ovarian, prostate, and pancreatic cancers)
- Comprehensive genomic profiling (CGP) for therapy selection in solid tumors
- Targeted gene panel sequencing for solid tumors for therapy selection
- Prognostic markers in tumors of the central nervous system
- Diagnostic markers for tumors in the central nervous system, endometrium, stomach, etc.
- Diagnostic and prognostic markers in brain, PNET, thyroid and other tumors
- Diagnostic marker for the presence of DICER1 syndrome
- Diagnostic and Predictive Markers for Targeted Therapy in Gastrointestinal Stromal Tumor (GIST)
- Predictive marker BRAF (V600) mutations for targeted therapy in oncological diseases (melanoma, colorectal and lung carcinomas, thyroid gland, GIST, brain tumors, etc.)
- Predictive marker for targeted therapy in chronic lymphocytic leukemia/CLL/
- Chronic lymphocytic leukemia / CLL / predictive marker for targeted therapy
- Optimization of the therapy with the indirect anticoagulant acenocoumarol (Syntrome)
- Optimization of platelet antiplatelet therapy clopidogrel (Plavix)
- Optimization of methotrexate therapy
- Optimization of therapy with the anti-tuberculosis drug isoniazid in pulmonary tuberculosis
- Investigation of DPYD variants to optimize chemotherapy with 5-fluorouracil and capecitabine
- Minimal residual disease in patients with neuroblastoma
- Optimizing therapy with drugs from the thiopurine group (Azathioprine, Mercaptopurine and Thioguanine)
- Slow metabolizers by CYP2C9
- Slow metabolizers by CYP2C19
- Slow metabolizers by CYP2D6
- Diagnostic markers in brain, rhabdoid, solid and other tumors
- Extended gene panel analysis for familial oncological diseases and interpretation
- Whole Exome Sequencing (WES) and interpretation of the clinical exome
- Whole Exome Sequencing (WES) without analysis and interpretation
- Carrier testing in a family with a known genetic cause of hereditary disease
- Confirmation analysis of Next Generation Sequencing Gene Mutation (NGS)
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS)
- Confirmatory analysis / segregation of aberrations identified by microarray analysis and NGS
- Confirmatory analysis / segregation of a CNV variant identified by next-generation sequencing (NGS)
- Microdeletion / microduplication syndromes
- Neurodevelopmental disorders/Autism spectrum disorders
- Congenital anomalies and malformative syndromes / miscarriages
Genomic imprinting is a specific influence on the expression of certain DNA genes (whether they are active or not) depending on which parent they are inherited from. To date, more than 100 imprinted genes have been identified. Many of them are related to fetal growth, others determine the behavioral and cognitive characteristics of the individual.
The expression of one copy of the gene depending on which parent is inherited (mono-allelic gene expression) is controlled by specific control regions of DNA (imprinting control regions - ICR), which are marked by the specific addition of methyl groups (DNA methylation) to certain nucleotides from the paternal or maternal DNA copy of the gene.
Disorders of the proper DNA methylation of these ICRs are associated with the manifestation of several syndromic diseases, such as Beckwith-Wiedemann syndrome and Silver-Russell syndrome, associated with abnormal fetal growth. Disorders in genomic imprinting is the cause of other two neuropsychological development syndromes - Prader-Willi and Angelman syndromes.
LGD offers genetic diagnosis associated with the following syndromic diseases:
- Prader Willi/Angelman syndromes
- Russell-Silver/Beckwith-Wiedemann syndromes
- Angelman syndromes
- Uniparental disomy testing
- DNA banking
- Sequencing at the customer's request
- Fragment analysis at the customer's request
- Microarray scanning at the customer's request
- Microarray scanning and bioinformatics analysis at the customer's request
- Comprehensive bioinformatics analysis and interpretation of NGS data
- Genetic counseling, Professor
- Genetic counseling, Medical doctor
- Microarray analysis with reagents provided by the Ministry of Health
- Clinical exome analysis, confirmation and interpretation, with reagents provided by the Ministry of Health
- Whole genome sequencing (WGS) with analysis and interpretation
- Congenital adrenal hyperplasia (21 hydroxylase deficiency)
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Growth deficiency
- Chromosomal copy number changes in childhood solid tumors (Neublastoma / rhabdomyosarcoma / Ewing's sarcoma / Wilm's tumor) with reagents provided by the Ministry of Health
- Pediatric solid tumors
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of up to 100 genes
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 100 to 200 genes
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of 200 to 500 genes
- Whole genome sequencing (WGS) with analysis and interpretation of a panel of over 500 genes
- Bioinformatic analysis and interpretation of whole genome sequencing (WGS) data